Deafness_IsolatedAndComplex
Gene: GATA2
This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.
Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.
Less common manifestations of GATA2 deficiency include lymphoedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome': gene included in this panel for this association (likely represents continuum rather than distinct disorder).
Over 20 unrelated individuals reported.
Sources: Expert ReviewCreated: 20 Dec 2021, 12:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Publications
Gene: gata2 has been classified as Green List (High Evidence).
Gene: gata2 has been classified as Green List (High Evidence).
gene: GATA2 was added gene: GATA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA2 were set to 21670465; 21242295; 21892158 Phenotypes for gene: GATA2 were set to Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 Review for gene: GATA2 was set to GREEN